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Nature Medicine|September 13, 2022
Genetic risk factors have a substantial impact on healthy life yearsSakari Jukarainen, Tuomo Kiiskinen, Sara Kuitunen, et al.Nature Genetics|April 4, 2017
Estimating the selective effects of heterozygous protein-truncating variants from human exome dataChristopher A Cassa, Donate Weghorn, Daniel J Balick, et al.Nucleic Acids Research|December 1, 2016
The ExAC browser: displaying reference data information from over 60 000 exomesKonrad J Karczewski, Ben Weisburd, Brett Thomas, et al.European Journal of Human Genetics : EJHG|November 24, 2016
A framework for the detection of de novo mutations in family-based sequencing dataLaurent C Francioli, Mircea Cretu-Stancu, Kiran V Garimella, et al.Human Mutation|February 17, 2015
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularityDominik G Grimm, Chloé-Agathe Azencott, Fabian Aicheler, et al.Mammalian Genome : Official Journal of the International Mammalian Genome Society|March 24, 2009
Replication of long-bone length QTL in the F9-F10 LG,SM advanced intercrossElizabeth A Norgard, Joseph P Jarvis, Charles C Roseman, et al.Nature Genetics|February 14, 2017
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samplesJack A Kosmicki, Kaitlin E Samocha, Daniel P Howrigan, et al.Nature Communications|October 13, 2019
Contribution of retrotransposition to developmental disordersEugene J Gardner, Elena Prigmore, Giuseppe Gallone, et al.Nature Communications|January 28, 2021
The contribution of X-linked coding variation to severe developmental disordersHilary C Martin, Eugene J Gardner, Kaitlin E Samocha, et al.Biorxiv : the Preprint Server for Biology|March 30, 2023
Inferring compound heterozygosity from large-scale exome sequencing dataMichael H Guo, Laurent C Francioli, Sarah L Stenton, et al.Pageof 6